Article
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha.
Human molecular genetics - 15 Aug 2007
Michienzi Stefano, Cherman Natasha, Holmbeck Kenn, Funari Alessia, Collins Michael T, Bianco Paolo, Robey Pamela Gehron, Riminucci Mara
Abstract excerpt
Activating mutations of the Gsalpha gene, encoded by the guanine nucleotide-binding protein, alpha stimulating (GNAS) locus located on chromosome 20q13, underlie different clinical phenotypes characterized by skeletal lesions [fibrous dysplasia (FD) of bone], extraskeletal diseases (mainly endocrine hyperfunction and skin hyperpigmentation) and variable combinations thereof [the McCune-Albright syndrome (MAS)]....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
